Evidence of hormone resistance in a pseudo-pseudohypoparathyroidism patient with a novel paternal mutation in GNAS.
about
Pseudohypoparathyroidism: one gene, several syndromes.GNAS Spectrum of Disorders.Ablation of the Stimulatory G Protein α-Subunit in Renal Proximal Tubules Leads to Parathyroid Hormone-Resistance With Increased Renal Cyp24a1 mRNA Abundance and Reduced Serum 1,25-Dihydroxyvitamin D.A Case of Primary Hypogonadism with Features of Albright's Syndrome.Follow-up Findings in a Turkish Girl with Pseudohypoparathyroidism Type Ia Caused by a Novel Heterozygous Mutation in the GNAS Gene.Pseudohypoparathyroidism and Gsα-cAMP-linked disorders: current view and open issues.Current Nomenclature of Pseudohypoparathyroidism: Inactivating Parathyroid Hormone/Parathyroid Hormone-Related Protein Signaling Disorder.Genetic and epigenetic defects at the GNAS locus lead to distinct patterns of skeletal growth but similar early-onset obesity.
P2860
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P2860
Evidence of hormone resistance in a pseudo-pseudohypoparathyroidism patient with a novel paternal mutation in GNAS.
description
2014 nî lūn-bûn
@nan
2014 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
Evidence of hormone resistance ...... vel paternal mutation in GNAS.
@ast
Evidence of hormone resistance ...... vel paternal mutation in GNAS.
@en
Evidence of hormone resistance ...... vel paternal mutation in GNAS.
@nl
type
label
Evidence of hormone resistance ...... vel paternal mutation in GNAS.
@ast
Evidence of hormone resistance ...... vel paternal mutation in GNAS.
@en
Evidence of hormone resistance ...... vel paternal mutation in GNAS.
@nl
prefLabel
Evidence of hormone resistance ...... vel paternal mutation in GNAS.
@ast
Evidence of hormone resistance ...... vel paternal mutation in GNAS.
@en
Evidence of hormone resistance ...... vel paternal mutation in GNAS.
@nl
P2093
P2860
P1433
P1476
Evidence of hormone resistance ...... ovel paternal mutation in GNAS
@en
P2093
Abdullah Bereket
Belma Haliloglu
Bettina Brix
Murat Bastepe
Olta Tafaj
Susanne Thiele
Zeynep Atay
P2860
P356
10.1016/J.BONE.2014.10.006
P577
2014-10-18T00:00:00Z